autosomal recessive spinocerebellar ataxia 12
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
Definition from the Mondo Disease Ontology (MONDO:0013687), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 6 reported patients · Infantile onset
- Cerebellar vermis atrophyHPOHP:0006855
- 2 of 2 reported patients
- EEG abnormalityHPOHP:0002353
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- SpasticityHPOHP:0001257
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WWOXHGNC:12799
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autosomal recessive spinocerebellar ataxia 12
- Also called
- autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOXautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOXautosomal recessive spinocerebellar ataxia type 12SCAR12spinocerebellar ataxia, autosomal recessive type 12WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndromeWWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome